Stephan Züchner - Concepedia

Author

Stephan Züchner

Also Known As

Adeline Vanderver, Alejo A. Morales, Amanda Wilson, Annelot C.M. van Esbroeck, Bernard Brais, Chiara Pantaleoni, Chunli Zhao, David Pellerin, Diane B Zastrow, Federico Zara

418

Publications

21.7K

Citations

H-Index

177

Concepts

All Affiliations

University of Miami Dr. John T. Macdonald Foundation Hertie Institute for Clinical Brain Research University College London University of Antwerp

About

Stephan Züchner is an author at University of Miami specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	53	97	11K
2	Engineering	7	7	789
3	Health Sciences	7	7	629
4	Natural Sciences	6	6	260
5	Arts	2	2	227

Stephan Züchner

194

Publications

17.5K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Stephan Züchner, Irina Mersiyanova, M. Muglia, Nature Genetics Neurodegenerative DiseasesMolecular NeuroscienceMitochondrial FunctionMitochondrial DynamicGenetics	2004	1.5K
dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway Jeannette M. Osterloh, Jing Yang, Timothy M. Rooney, Science	2012	706
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar, Neuron Amyotrophic Lateral SclerosisDementiaFrontotemporal DementiaNeurochemical BiomarkersNeuroscience	2017	635
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia Andrea Cortese, Roberto Simone, Roisin Sullivan, Nature Genetics Biallelic ExpansionNeurological DisorderGenetic DisorderIntronic RepeatLate-onset Ataxia	2019	564
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Human Mutation GeneticsGenetic EpidemiologyDatabasesGenomicsBioinformatics Database	2015	468
Genome‐Wide Association Study Confirms SNPs in <i>SNCA</i> and the <i>MAPT</i> Region as Common Risk Factors for Parkinson Disease Todd L. Edwards, William K. Scott, Cherylyn Almonte, Annals of Human Genetics Pd Risk LociDisease EtiologyGeneticsGenetic EpidemiologyDisease Gene Identification	2010	460
Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein Gaofeng Wang, Joelle M. van der Walt, Gregory M. Mayhew, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceSynaptic SignalingFgf20 Confers RiskParkinson Disease	2008	441
Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy Nadine Norton, Duanxiang Li, Mark J. Rieder, The American Journal of Human Genetics Genome-wide StudiesCardiomyopathyEngineeringMedicineGenetics	2011	359
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 Stephan Züchner, Peter De Jonghe, Albena Jordanova, Annals of Neurology	2006	358
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease Stephan Züchner, Maher Noureddine, Marina Kennerson, Nature Genetics Mendelian DisorderGeneticsPathogenesisPleckstrin Homology DomainMolecular Biology	2005	356

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